Association of Meckel syndrome with M-anisosplenia in one patient.
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Biomedical subjects
Publications and source records attributed to P Goddeeris.
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The effects of neonatally administered steroids on the sensitivity of the mammary gland to tumour induction by 7, 12-dimethylbenz (alpha) anthracene was studied as a model for delayed (de) differentiating effects of steroid hormones. Immediately after birth male and female rats were gonadectomized and treated with testosterone, oestradiol or oil. Control animals were left intact. On day 45 all the gonadectomized animals and some of the control animals received an implant which delivered continuous low levels of oestradiol. The carcinogen was administered on day 55. The administration of an oestradiol implant, which increased prolactin levels in all animals, markedly reduced tumour incidence in intact female rats and increased tumour incidence in intact male rats. Neonatal administration of testosterone or oestradiol did not significantly influence tumour incidence, histopathology or oestradiol responsiveness in neonatally gonadectomized rats but tended to decrease tumour animals suggests that the effects observed by other authors in intact rats are mediated by changes in gonadal secretions. It is concluded that the hormonal environment during and after tumour induction plays a major role in the development of 7, 12-dimethylbenz (alpha) anthracene-induced mammary carcinomas.
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Ten cases of hydrops fetalis not associated with serologic incompatibility between mother and infant were studied by autopsy. Classic trisomy 21 was present in two, and in six others the postmortem examination revealed major congenital abnormalities (hydrometrocolpos-polydactyly syndrome, achondrogenesis type 2, congenital adenomatoid malformation of the lung, and aortic valvular dysplasia with left ventricular endocardial fibroelastosis). In two instances, anasarca was associated with a congenital tumor: a sacrococcygeal teratoma and an adrenal neuroblastoma. In six fetuses, prenatal diagnosis of hydrops fetalis or severe congenital malformations was established by ultrasonography.
Clinical observations and autopsy findings in 16 cases of full 18 trisomy are presented. These patients were seen during the ten-year period of 1971-1981. In 14 cases, typical clinical features allowed a tentative diagnosis. However, two cases presented with an atypical phenotype: a Potter's syndrome associated with urethral atresia was superimposed, obscuring the more classical trisomy 18 stigmata. This combination is believed to be unique. Cardiovascular defects, varying in type and degree were invariably present. A very high incidence of major gastrointestinal and urogenital abnormalities was also noted. Histological abnormalities giving evidence of organ dysplasia, were observed in the central nervous system, pancreas, kidneys and ovaries.
The anatomical relationship between the terminal ureter, the trigone and the vesico-ureteral junction was studied in vivo by ultrasound. In healthy test persons successful visualization and differentiation of the submucosal, transmural and retrovesical segments of the terminal ureter could be obtained. Some potential clinical applications of the method are discussed.
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A boy was suspected of having meningoencephalitis probably of viral origin, although all microbiological, including virological, tests were negative. Postmortem examination revealed a dissecting aortic aneurysm and disseminated intravascular coagulation involving the central nervous system exclusively. The clinical evolution, the age of the patient, and the association of DAA with this cerebral disseminated coagulation is very unusual.
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The determination of estradiol and progesterone receptor concentrations in mammary tumors is useful in predicting the hormone responsiveness. As this assay is carried out on tumor tissue which may have been subjected to radiotherapy, the possibility of an ionizing irradiation affecting the steroid receptor levels in neoplastic tissue should be taken into account. The steroid receptor concentrations are examined in dimethylbenz(a)anthracene-induced tumors of Sprague-Dawley rats. The estradiol and the progesterone receptor titers become reduced significantly after treatment with 20 Gray while an application with 7 Gray does not affect the titer values. After treatment of the tumor with 20 Gray, the steroid receptor concentrations decrease progressively, reaching a maximal reduction 20 to 30 days after exposure. This measured reduction in binding sites seems to be the result of a specific irradiation effect and not due to a possible increase in lytic enzyme levels in the regressing tumors. As radiation treatment affects the receptor concentrations, this should be kept in mind when interpreting the steroid receptor concentrations.
An identical pair of twins with the tetraphocomelia-cleft palate syndrome is presented. It is hypothesized that Roberts' syndrome and the pseudothalidomide syndrome, previously reported as separate entities, represent different manifestations of the same autosomal, recessively inherited malformation pattern.
An XX/XY mosaicism was detected in two phenotypically male newborns with perinatal death, The importance of chromosome studies at the paediatric necropsy and the significance of the present findings are discussed.
Partial or complete absence of the thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated with agenesis or hypoplasia of the parathyroid glands and, almost invariably, with cardiovascular malformations. The clinical and pathologcial findings in 10 cases proven at necropsy are presented. All patients presented with cardiac symptoms and signs in the first weeks of life and, with one exception, all died of a cardiac cause. Major cardiovascular malformations were found in all 10 cases. Four had, in association with a ventricular septal defect of the infundibular type, an interrupted aortic arch, which was left-sided in two and right-sided in two other cases. Four patients had truncus arteriosus type I, in two of them associated with a right-sided aortic arch. Two patients with tetralogy of Fallot had a right-sided aortic arch. Only two of the 10 had a normally developed left aortic arch. Aberrant subclavian arteries were found in five cases. From our observations and a survey of the previously published patients it appears that 90 per cent of the necropsy-proven cases of DiGeorge syndrome have cardiovascular malformations and that 95 per cent of these malformations can be classified as aortic arch anomalies, truncus ateriosus, or tetralogy of Fallot.
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A 52 years old woman with mitral valve prolapse and a history of 3 cardiac syncopes occurring during antiarrhythmic therapy underwent mitral valve replacement. Antiarrhythmic drugs had to be continued postoperatively but no major ventricular arrhythmias occurred after surgery.